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Gastrointestinal stromal tumor(GIST)

MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Synonyms: Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic
SNOMED CT: Gastrointestinal pacemaker cell tumor (128755003); Gastrointestinal stromal tumor (420120006); GIST - Gastrointestinal stromal tumor (420120006); Gastrointestinal stromal tumor (1187383001)
Modes of inheritance:
 
KIT (4q12); SDHB (1p36.13); SDHC (1q23.3)
 
HPO: HP:0100723
Monarch Initiative: MONDO:0011719
OMIM®: 606764
Orphanet: ORPHA44890

Definition

Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510). [from OMIM]

Additional description

From MedlinePlus Genetics
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. This type of tumor is thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. Affected individuals can develop one or more tumors. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop this type of tumor.

Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the belly area (abdomen), nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding into the gastrointestinal tract, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding into the intestines may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood.

Affected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as maculopapular cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched.

A rare form of GIST, called succinate dehydrogenase (SDH)-deficient GIST, tends to occur in childhood or young adulthood and affects females more commonly than males. In this form, tumors are almost always in the stomach. Individuals with an SDH-deficient GIST have a high risk of developing other types of tumors, particularly noncancerous tumors in the nervous system called paragangliomas and noncancerous lung tumors called pulmonary chondromas. When GISTs occur in combination with paragangliomas, the condition is known as Carney-Stratakis syndrome; the combination of GISTs, paragangliomas, and pulmonary chondromas is known as Carney triad; and the combination of GISTs and pulmonary chondroma is known as incomplete Carney triad.  https://medlineplus.gov/genetics/condition/gastrointestinal-stromal-tumor

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGastrointestinal stromal tumor

Conditions with this feature

Professional guidelines

PubMed

Deprez PH, Moons LMG, OʼToole D, Gincul R, Seicean A, Pimentel-Nunes P, Fernández-Esparrach G, Polkowski M, Vieth M, Borbath I, Moreels TG, Nieveen van Dijkum E, Blay JY, van Hooft JE
Endoscopy 2022 Apr;54(4):412-429. Epub 2022 Feb 18 doi: 10.1055/a-1751-5742. PMID: 35180797
Kelly CM, Gutierrez Sainz L, Chi P
J Hematol Oncol 2021 Jan 5;14(1):2. doi: 10.1186/s13045-020-01026-6. PMID: 33402214Free PMC Article
Akahoshi K, Oya M, Koga T, Shiratsuchi Y
World J Gastroenterol 2018 Jul 14;24(26):2806-2817. doi: 10.3748/wjg.v24.i26.2806. PMID: 30018476Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gastrointestinal Stromal Tumors, 2023

Recent clinical studies

Etiology

Dashti NK, Shi C
Surg Pathol Clin 2020 Sep;13(3):521-556. Epub 2020 Jul 15 doi: 10.1016/j.path.2020.06.001. PMID: 32773198
Keung EZ, Raut CP
Surg Clin North Am 2017 Apr;97(2):437-452. doi: 10.1016/j.suc.2016.12.001. PMID: 28325196
Tirumani SH, Baheti AD, Tirumani H, O'Neill A, Jagannathan JP
Korean J Radiol 2017 Jan-Feb;18(1):84-93. Epub 2017 Jan 5 doi: 10.3348/kjr.2017.18.1.84. PMID: 28096720Free PMC Article
Martínez-Marín V, Maki RG
Gastroenterol Clin North Am 2016 Sep;45(3):477-86. doi: 10.1016/j.gtc.2016.04.006. PMID: 27546844
Martin-Broto J, Hindi N
Curr Opin Oncol 2016 Jul;28(4):338-44. doi: 10.1097/CCO.0000000000000302. PMID: 27166665

Diagnosis

Dembiński Ł, Dziekiewicz M, Banasiuk M, Banaszkiewicz A
J Pediatr Gastroenterol Nutr 2023 Aug 1;77(2):e48. Epub 2023 May 17 doi: 10.1097/MPG.0000000000003831. PMID: 37195885
Elnassasra A, Hershkovitz Y, Zager Y, Lavy R
Isr Med Assoc J 2022 Oct;24(10):677-678. PMID: 36309865
Akahoshi K, Oya M, Koga T, Shiratsuchi Y
World J Gastroenterol 2018 Jul 14;24(26):2806-2817. doi: 10.3748/wjg.v24.i26.2806. PMID: 30018476Free PMC Article
Domansk HA, Walther CS
Monogr Clin Cytol 2017;22:89-91. Epub 2017 Jul 27 doi: 10.1159/000475100. PMID: 28750384
Schaefer IM, Mariño-Enríquez A, Fletcher JA
Adv Anat Pathol 2017 Sep;24(5):259-267. doi: 10.1097/PAP.0000000000000158. PMID: 28632504Free PMC Article

Therapy

Schaefer IM, DeMatteo RP, Serrano C
Am Soc Clin Oncol Educ Book 2022 Apr;42:1-15. doi: 10.1200/EDBK_351231. PMID: 35522913Free PMC Article
Kelly CM, Gutierrez Sainz L, Chi P
J Hematol Oncol 2021 Jan 5;14(1):2. doi: 10.1186/s13045-020-01026-6. PMID: 33402214Free PMC Article
Wang Y, Call J
Curr Cancer Drug Targets 2019;19(9):688-697. doi: 10.2174/1568009619666190326123945. PMID: 30914028
Akahoshi K, Oya M, Koga T, Shiratsuchi Y
World J Gastroenterol 2018 Jul 14;24(26):2806-2817. doi: 10.3748/wjg.v24.i26.2806. PMID: 30018476Free PMC Article
Keung EZ, Raut CP
Surg Clin North Am 2017 Apr;97(2):437-452. doi: 10.1016/j.suc.2016.12.001. PMID: 28325196

Prognosis

Lillemoe HA, Brudvik KW, Vauthey JN
Semin Liver Dis 2019 Jul;39(3):395-402. Epub 2019 May 17 doi: 10.1055/s-0039-1685517. PMID: 31100757
Akahoshi K, Oya M, Koga T, Shiratsuchi Y
World J Gastroenterol 2018 Jul 14;24(26):2806-2817. doi: 10.3748/wjg.v24.i26.2806. PMID: 30018476Free PMC Article
Mori H, Kobara H, Nishiyama N, Masaki T
Dig Endosc 2018 Apr;30 Suppl 1:25-31. doi: 10.1111/den.13042. PMID: 29658644
Agud Fernández M, López López F, Díaz Pedroche C, Gómez-Martín C
Gastroenterol Hepatol 2018 May;41(5):310-311. Epub 2017 Jun 24 doi: 10.1016/j.gastrohep.2017.05.013. PMID: 28655409
Joensuu H
Hum Pathol 2008 Oct;39(10):1411-9. doi: 10.1016/j.humpath.2008.06.025. PMID: 18774375

Clinical prediction guides

Hemming ML, Benson MR, Loycano MA, Anderson JA, Andersen JL, Taddei ML, Krivtsov AV, Aubrey BJ, Cutler JA, Hatton C, Sicinska E, Armstrong SA
Cancer Discov 2022 Jul 6;12(7):1804-1823. doi: 10.1158/2159-8290.CD-21-0646. PMID: 35499757Free PMC Article
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Ma C, Tsai H, Su W, Sun L, Shih Y, Wang J
J Postgrad Med 2018 Jul-Sep;64(3):155-163. doi: 10.4103/jpgm.JPGM_693_17. PMID: 29848836Free PMC Article
Rowe SP, Chu LC, Fishman EK
Abdom Radiol (NY) 2018 Nov;43(11):2928-2937. doi: 10.1007/s00261-018-1578-0. PMID: 29589059
Martin-Broto J, Hindi N
Curr Opin Oncol 2016 Jul;28(4):338-44. doi: 10.1097/CCO.0000000000000302. PMID: 27166665

Recent systematic reviews

Zhou Y, Wang X, Si X, Wang S, Cai Z
Asian J Surg 2020 Jan;43(1):1-8. Epub 2019 Mar 8 doi: 10.1016/j.asjsur.2019.02.006. PMID: 30853211
Waidhauser J, Bornemann A, Trepel M, Märkl B
World J Gastroenterol 2019 Aug 14;25(30):4261-4277. doi: 10.3748/wjg.v25.i30.4261. PMID: 31435178Free PMC Article
Patra S, Ayyanar P, Padhi S, Purkait S, Muduly DK, Samal SC
Am J Case Rep 2019 Aug 10;20:1175-1181. doi: 10.12659/AJCR.916251. PMID: 31399553Free PMC Article
Herzberg M, Beer M, Anupindi S, Vollert K, Kröncke T
J Pediatr Surg 2018 Sep;53(9):1862-1870. Epub 2018 Mar 29 doi: 10.1016/j.jpedsurg.2018.03.022. PMID: 29685489
Mori H, Kobara H, Nishiyama N, Masaki T
Dig Endosc 2018 Apr;30 Suppl 1:25-31. doi: 10.1111/den.13042. PMID: 29658644

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024
    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gastrointestinal Stromal Tumors, 2023

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